Article
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
American journal of human genetics - 1 Mar 1999
Tavormina P L, Bellus G A, Webster M K, Bamshad M J, Fraley A E, McIntosh I, Szabo J, Jiang W, Jabs E W, Wilcox W R, Wasmuth J J, Donoghue D J, Thompson L M, Francomano C A
Abstract excerpt
We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1). However, three of the four individuals developed extensive areas of acanthosis nigricans beginning in early childhood, suffer from severe neurological impairments, and have survived past infancy...
Topics
- Acanthosis Nigricans
- Achondroplasia
- Bone and Bones
- Craniosynostoses
- Developmental Disabilities
- Humans
- Immunoblotting
- Models, Biological
- Mutagenesis, Site-Directed